KRT7 Gene (Keratin 7)
Type II Cytokeratin 7: Structure, Function, and Clinical Relevance
Gene Information Card
| Symbol | KRT7 |
|---|---|
| Full Name | Keratin 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3855 ncbi.nlm.nih.gov/gene/3855 |
| Ensembl ID | ENSG00000135480 |
| UniProt ID | P08729 |
| OMIM ID | 148059 |
| HGNC ID | 6445 |
| Aliases | CK7, K7, SCL, KRT7A |
Description
KRT7 (Keratin 7) is a protein-coding gene that encodes a type II cytokeratin. Keratin 7 is a member of the intermediate filament family and is specifically expressed in simple epithelia, including lung, breast, ovary, and gastrointestinal tract. It forms heteropolymers with type I keratins (e.g., KRT19, KRT18) to provide structural integrity to epithelial cells. KRT7 is widely used as an immunohistochemical marker in tumor diagnosis, particularly for distinguishing lung adenocarcinoma (positive) from squamous cell carcinoma (negative).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung adenocarcinoma | KRT7 overexpression is a diagnostic marker; not directly causal | ClinVar, literature |
| Breast carcinoma | KRT7 expression used in immunohistochemical panels (CK7+/CK20- pattern) | ClinVar, literature |
| Ovarian serous carcinoma | KRT7 positivity is characteristic | ClinVar, literature |
| Cholangiocarcinoma | KRT7 expression helps differentiate from hepatocellular carcinoma | ClinVar, literature |
| Bladder urothelial carcinoma | KRT7 is commonly expressed | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 82.3 | High |
| Breast | 68.9 | High |
| Ovary | 75.1 | High |
| Colon | 12.4 | Low |
| Liver | 5.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung adenocarcinoma) | 85.6 | High expression |
| MCF7 (breast adenocarcinoma) | 72.3 | High expression |
| HeLa (cervical adenocarcinoma) | 60.1 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of function; rare |
| c.315C>T (p.Ser105=) | Synonymous | <0.1% | No known effect |
| c.1045G>A (p.Glu349Lys) | Missense | <0.1% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No well-established loss-of-function mutations reported in KRT7; likely embryonic lethal if homozygous.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • intermediate filament (GO:0005882) |
| • keratin filament (GO:0045095) | • epithelial cell differentiation (GO:0030855) |
| • epidermis development (GO:0008544) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Formation of the cornified envelope (Reactome: R-HSA-6809374)
Protein Summary
Keratin 7 is a 54 kDa type II cytokeratin composed of 469 amino acids. It forms heterodimers with type I keratins (e.g., KRT18, KRT19) to assemble into intermediate filaments that provide mechanical support to simple epithelial cells. The protein contains a central alpha-helical rod domain flanked by non-helical head and tail domains. Post-translational modifications include phosphorylation, which regulates filament dynamics. KRT7 is a key diagnostic marker in surgical pathology, especially in panels differentiating adenocarcinoma subtypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT7 Knockout HEK293 Cell Line | EDJ-KQ2153 | Human | 3855 | Details Get a Quote |
| KRT75 Knockout HEK293 Cell Line | EDJ-KQ6464 | Human | 9119 | Details Get a Quote |
| KRT71 Knockout HEK293 Cell Line | EDJ-KQ7396 | Human | 112802 | Details Get a Quote |
| KRT74 Knockout HEK293 Cell Line | EDJ-KQ7992 | Human | 121391 | Details Get a Quote |
| KRT73 Knockout HEK293 Cell Line | EDJ-KQ9163 | Human | 319101 | Details Get a Quote |
| KRT72 Knockout HEK293 Cell Line | EDJ-KQ9814 | Human | 140807 | Details Get a Quote |
| KRT76 Knockout HEK293 Cell Line | EDJ-KQ10359 | Human | 51350 | Details Get a Quote |
| KRT77 Knockout HEK293 Cell Line | EDJ-KQ13978 | Human | 374454 | Details Get a Quote |
| KRT78 Knockout HEK293 Cell Line | EDJ-KQ13979 | Human | 196374 | Details Get a Quote |
| KRT79 Knockout HEK293 Cell Line | EDJ-KQ13980 | Human | 338785 | Details Get a Quote |
| KRT7 Knockout A-549 Cell Line | EDJ-KQ23710 | Human | 3855 | Details Get a Quote |
| KRT7 Knockout HCT 116 Cell Line | EDJ-KQ23712 | Human | 3855 | Details Get a Quote |
| KRT7 Knockout HeLa Cell Line | EDJ-KQ23713 | Human | 3855 | Details Get a Quote |
| KRT75 Knockout HeLa Cell Line | EDJ-KQ55088 | Human | 9119 | Details Get a Quote |
| KRT76 Knockout HeLa Cell Line | EDJ-KQ56294 | Human | 51350 | Details Get a Quote |
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